Impaired theory of mind in unaffected first-degree relatives of patients with anorexia nervosa.

OBJECTIVE: Previous studies have shown theory of mind (ToM) is affected in patients with anorexia nervosa (AN). There has also been growing interest in the study of endophenotypes in psychiatric disorders, since they allow better understanding of genetic mechanisms underlying different conditions, making them potential targets for future treatment. The goal of this study was to investigate whether ToM inefficiencies observed in patients with AN, are shared by unaffected first-degree relatives. METHOD: Performance on two ToM tasks (Reading the Mind in the Eyes and Faux Pas Test) were compared in 17 unaffected first-degree relatives of AN patients and in 17 healthy individuals matched for age and level of education. Depression, anxiety, obsessive compulsive, and eating disorder symptoms were also assessed and correlated with ToM and clinical/demographic variables. RESULTS: Significant differences between groups were observed in all ToM tasks, with relatives of AN patients showing poorer performance. ToM assessment did not correlate with any clinical or demographic variable. CONCLUSIONS: The preliminary results of this study suggest unaffected first-degree relatives of AN patients display similar patterns of difficulty in ToM as reported previously for AN patients, supporting the hypothesis that ToM inefficiencies are a familial trait in this condition.

[Theory of Mind in eating disorders: endophenotype of the disease?]. / Teoría de la mente en los trastornos alimentarios: ¿endofenotipo de la enfermedad?

UNLABELLED: Considering the clinical and empirical evidence of socio-cognitive difficulties in patients with eating disorders, this paper aims to critically review the current state of research on theory of mind in anorexia and bulimia, to evaluate if there is any alteration of it in these pathologies and to determine whether there are indicators that can be considered endophenotype. METHOD: We conducted a literature search of PubMed database, using keywords related to the topic. The papers were analyzed according to inclusion/ exclusion criteria. RESULTS: We identified seven studies of patients with anorexia, one on bulimia and four on both pathologies. Most studies reported that patients with anorexia have alterations in the theory of mind. Studies on bulimia are scarce, and their results contradictory. CONCLUSION: Research on theory of mind in eating disorders at initial level, being the most of works on anorexia. There are indicators of deficits for this pathology on ToM tasks, and they might be considered endophenotypes, although studies that evaluate unaffected first-degree relatives are still lacking.

Prognostic value of ATN Alzheimer biomarkers: 60-month follow-up results from the Argentine Alzheimer's Disease Neuroimaging Initiative.

PURPOSE: To describe results of the Amyloid, Tau, Neurodegeneration (ATN) research framework classification in the Argentine-Alzheimer's Disease Neuroimaging Initiative (arg-ADNI) cohort. METHODS: Twenty-three patients with mild cognitive impairment (MCI), 12 dementia of Alzheimer's type (DAT), and 14 normal controls were studied following the ADNI2 protocol. Patients were categorized according to presence or absence of the biomarkers for amyloid beta (Aß; A: amyloid positron emission tomography [PET] scan or cerebrospinal fluid [CSF] Aß42), tau (T: CSF phosphorylated-tau), and neurodegeneration (N: CSF total-tau, fluorodeoxyglucose [FDG]-PET scan, or structural magnetic resonance imaging [MRI] scan). RESULTS: A+T+N+ biomarker profile was identified at baseline in 91% of mild dementia patients, 20% of early MCI patients, 46% of late MCI patients, and 14% of control subjects. Suspected non-AD pathophysiology (SNAP, A-T-N+) was found in 8% of mild dementia, 20% of early MCI, 15% of late MCI, and 7% of control subjects. Conversion rates to dementia after 5-year follow-up were 85% in A+T+N+ MCI patients and 50% in A-T-N+ patients. CONCLUSIONS: We present initial 5-year follow-up results of a regional ADNI based on AD biomarkers and the ATN classification.

Argentina-Alzheimer's disease neuroimaging initiative (Arg-ADNI): neuropsychological evolution profile after one-year follow up.

The Argentina-Alzheimer's disease neuroimaging initiative (Arg-ADNI) study is a longitudinal prospective cohort of 50 participants at a single institution in Buenos Aires, Argentina. Longitudinal assessments on a neuropsychological test battery were performed on 15 controls, 24 mild cognitive impairment (MCI) patients and 12 Alzheimer's disease (AD) dementia patients. In our study population, there was a high prevalence of positive AD biomarkers in the AD group, 92.3% (12/13); and a low prevalence in the normal controls, 20%; almost half (48%) of the patients diagnosed with MCI had positive amyloid detection. After a one year, the significant differences found at baseline on neuropsychological testing were similar at the follow-up assessment even though the AD group had significantly altered its functional performance (FAQ and CDR). The exception was semantic fluency, which showed greater impairment between the AD group and MCI and normal controls respectively. For these tests, the addition of AD biomarkers as a variable did not significantly alter the variations previously found for the established clinical group's model. Finally, the one-year conversion rate to dementia was 20% in the MCI cohort.

El funcionamiento cognitivo como endofenotipo de la anorexia nerviosa. Estudio en familiares no afectados por la enfermedad / Cognitive functioning as an endophenotype of anorexia nervosa. A study in first-degree relatives unaffected by the disease

Resumen El perfil cognitivo de los pacientes con anorexia nerviosa se caracteriza por dificultades en la flexibilidad mental y en la coherencia central. El objetivo de este trabajo fue analizar si los familiares de primer grado no afectados de los pacientes presentan estas dificultades cognitivas, que podrían representar rasgos endofenotípicos de la enfermedad. Fueron estudiadas 34 mujeres: 17 familiares de primer grado (madres y hermanas) de pacientes con anorexia nerviosa y 17 controles sanos agrupados por edad y escolaridad. Se consideraron el índice de masa corporal, la ansiedad, la depresión, los síntomas obsesivo-compulsivos y los relacionados con los trastornos alimentarios. Se evaluó la coherencia central, mediante la copia de la Figura Compleja de Rey, y la flexibilidad mental, mediante el test de Stroop, el test de los trazos B y el test de fluencia fonológica. Los familiares de pacientes con anorexia nerviosa presentaron un menor rendimiento en las medidas de coherencia central (p < .05) y en fluencia fonológica (p < .05) que los controles sanos. Se observó una correlación entre el test de Stroop y los síntomas de depresión y trastornos alimentarios (p < .05). Los familiares de primer grado no afectados de pacientes con anorexia nerviosa presentaron dificultades en la coherencia central y, en menor grado, en la flexibilidad mental. Los resultados en los familiares indican que este perfil podría ser mediado genéticamente, constituyendo un rasgo característico de la anorexia nerviosa y, por ende, un posible candidato a endofenotipo neuropsicológico de esta enfermedad.

Abstract The cognitive profile of patients with anorexia nervosa is characterized by difficulties in central coherence and mental flexibility. Central coherence is defined by the ability to integrate incoming information in its own context, and weakness in central coherence is characterized by poor overall processing and superior detail processing. Mental flexibility is defined by the ability to change the course of a thought or action according to the demands of the environment. Alterations in this cognitive domain generate rigid and inflexible behavior. An open question in the literature is whether these cognitive characteristics are a transient state derived from the disease or whether they are stable traits associated with anorexia nervosa and endophenotypical features of this disease. The concept of endophenotype refers to the internal phenotype that is not clinically appreciable but can be observed indirectly through deficits that arise in the performance of certain neuropsychological tests. In recent years the search for endophenotypes has been renewed in the field of psychiatry as they would constitute an important route for the understanding of the biological and genetic bases of mental illnesses, constituting markers that allow a diagnosis before the onset of clinical symptomatology. For a cognitive marker to be considered an endophenotype it must meet a series of characteristics such as being measurable, inherited, found in patients with and without active disease and in first-degree relatives not affected by the disease. The aim of the present study was to assess whether difficulties in central coherence and mental flexibility are shared by unaffected first-degree relatives of patients with anorexia nervosa and thus constitute an endophenotypical feature of this disease. This is a cross-sectional, descriptive-comparative study in which 34 women participated: 17 unaffected first-degree relatives of patients with anorexia nervosa (mothers and sisters) and 17 healthy controls matched by age and education. For the study of central coherence the copy of Rey's Complex Figure was used and to assess set-shifting the Stroop test, the Trail Making Test B and the Phonological Fluency test were used. Demographic and clinical aspects such as age, educational level, body mass index, anxiety, depression, obsessive-compulsive and eating disorder related symptoms were also evaluated. First-degree relatives of patients with anorexia nervosa showed lower performance on measures of central coherence (p < .05) and phonological fluency (p < .05) than healthy controls. A correlation was observed between the Stroop test and depression and eating disorders symptoms (p < .05). The results of this study show that unaffected first-degree relatives of patients with anorexia nervosa presented alterations in central coherence and, to a lesser degree, in mental flexibility. These results, in addition to previous research in which difficulties persisted even after recovery, indicate that these alterations could be genetically mediated, constituting a characteristic trait of anorexia nervosa and therefore a possible candidate for neuropsychological endophenotype of this disease. Regarding practical implications of the study, the findings reinforce the importance of cognitive remediation treatments not only for patients with anorexia nervosa but also emphasize that they could be useful for unaffected family members. Taking into account that family intervention is a widely used tool in the psychological treatment of anorexia, improving the perception of the patient and his relatives about cognitive biases, could contribute to raising awareness of the disease, something that patients with anorexia nervosa do not usually have, and generate a positive impact on the response to treatment as a whole.

Cognitive reserve and Aß1-42 in mild cognitive impairment (Argentina-Alzheimer's Disease Neuroimaging Initiative).

BACKGROUND: The purpose of this study was to investigate the relationship between cognitive reserve and concentration of Aß1-42 in the cerebrospinal fluid (CSF) of patients with mild cognitive impairment, those with Alzheimer's disease, and in control subjects. METHODS: Thirty-three participants from the Argentina-Alzheimer's Disease Neuroimaging Initiative database completed a cognitive battery, the Cognitive Reserve Questionnaire (CRQ), and an Argentinian accentuation reading test (TAP-BA) as a measure of premorbid intelligence, and underwent lumbar puncture for CSF biomarker quantification. RESULTS: The CRQ significantly correlated with TAP-BA, education, and Aß1-42. When considering Aß1-42 levels, significant differences were found in CRQ scores; higher levels of CSF Aß1-42 were associated with higher CRQ scores. CONCLUSION: Reduced Aß1-42 in CSF is considered as evidence of amyloid deposition in the brain. Previous results suggest that individuals with higher education, higher occupational attainment, and participation in leisure activities (cognitive reserve) have a reduced risk of developing Alzheimer's disease. Our results support the notion that enhanced neural activity has a protective role in mild cognitive impairment, as evidenced by higher CSF Aß1-42 levels in individuals with more cognitive reserve.

Argentina-Alzheimer's disease neuroimaging initiative (Arg-ADNI): neuropsychological evolution profile after one-year follow up / Argentina-Alzheimer's disease neuroimaging initiative (Arg-ADNI): evolução do perfil neuropsicológico depois de um ano de seguimento

ABSTRACT The Argentina-Alzheimer's disease neuroimaging initiative (Arg-ADNI) study is a longitudinal prospective cohort of 50 participants at a single institution in Buenos Aires, Argentina. Longitudinal assessments on a neuropsychological test battery were performed on 15 controls, 24 mild cognitive impairment (MCI) patients and 12 Alzheimer's disease (AD) dementia patients. In our study population, there was a high prevalence of positive AD biomarkers in the AD group, 92.3% (12/13); and a low prevalence in the normal controls, 20%; almost half (48%) of the patients diagnosed with MCI had positive amyloid detection. After a one year, the significant differences found at baseline on neuropsychological testing were similar at the follow-up assessment even though the AD group had significantly altered its functional performance (FAQ and CDR). The exception was semantic fluency, which showed greater impairment between the AD group and MCI and normal controls respectively. For these tests, the addition of AD biomarkers as a variable did not significantly alter the variations previously found for the established clinical group's model. Finally, the one-year conversion rate to dementia was 20% in the MCI cohort.

RESUMO El estudio de Argentina-Alzheimer's Disease Neuroimaging Initiative (Arg-ADNI) es una cohorte prospectiva de 50 pacientes seguidos en una misma institución. Fueron evaluados cognitivamente 15 controles normales (CN), 24 sujetos con deterioro cognitivo leve (DCL) y 12 con demencia tipo Alzheimer (DTA) leve. En los DTA, 92,3% tuvieron biomarcadores positivos para Alzheimer y 20% en los CN. Casi la mitad de los DCL presentaron biomarcadores positivos. Después de un año de seguimiento, la diferencias significativas halladas en la visita de inicio en las pruebas cognitivas fueron similares al año aunque los DTA tuvieron empeoramiento funcional medido en el FAQ y CDR. La excepción fue la fluencia semántica, la cual mostró mayor declinación entre DTA y los demás grupos. La incorporación de los biomarcadores como variable no alteró significativamente los hallazgos de grupo. La tasa de conversión a demencia anual fue del 20%.

Teoría de la mente en los trastornos alimentarios: ¿endofenotipo de la enfermedad? / [Theory of Mind in eating disorders: endophenotype of the disease?].

UNLABELLED: Considering the clinical and empirical evidence of socio-cognitive difficulties in patients with eating disorders, this paper aims to critically review the current state of research on theory of mind in anorexia and bulimia, to evaluate if there is any alteration of it in these pathologies and to determine whether there are indicators that can be considered endophenotype. METHOD: We conducted a literature search of PubMed database, using keywords related to the topic. The papers were analyzed according to inclusion/ exclusion criteria. RESULTS: We identified seven studies of patients with anorexia, one on bulimia and four on both pathologies. Most studies reported that patients with anorexia have alterations in the theory of mind. Studies on bulimia are scarce, and their results contradictory. CONCLUSION: Research on theory of mind in eating disorders at initial level, being the most of works on anorexia. There are indicators of deficits for this pathology on ToM tasks, and they might be considered endophenotypes, although studies that evaluate unaffected first-degree relatives are still lacking.